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Year Number of Results
2008 1
2009 1
2011 2
2012 2
2013 3
2014 1
2015 4
2017 1
2018 4
2019 2
2020 5
2021 1
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23 results
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Page 1
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Pelletier F, et al. Among authors: gonzalez moron d. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Salinas V, Vega P, Marsili L, Pérez-Maturo J, Martínez N, Zavala L, González-Morón D, Medina N, Rodriguez-Quiroga SA, Amartino H, Maxit C, Sturchio A, Grimberg B, Duque K, Comas B, Silva W, Consalvo D, Sfaello I, Espay AJ, Kauffman MA. Salinas V, et al. Among authors: gonzalez moron d. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):876-884. doi: 10.1002/ajmg.c.31848. Epub 2020 Oct 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33084218
Holmes Tremor-Like Phenotype in DYT1 Dystonia.
Rodriguez-Quiroga S, Gonzalez-Moron D, Espay AJ, Kauffman MA. Rodriguez-Quiroga S, et al. Among authors: gonzalez moron d. Mov Disord Clin Pract. 2018 Feb 7;5(2):206-208. doi: 10.1002/mdc3.12585. eCollection 2018 Mar-Apr. Mov Disord Clin Pract. 2018. PMID: 30746402 Free PMC article. No abstract available.
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Perez Maturo J, et al. Among authors: gonzalez moron d. J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3. J Hum Genet. 2020. PMID: 32488064
A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.
Rodriguez-Quiroga S, Zavala L, Pérez Maturo J, González-Morón D, Garretto N, Kauffman MA. Rodriguez-Quiroga S, et al. Among authors: gonzalez moron d. Mov Disord Clin Pract. 2020 Mar 11;7(3):332-334. doi: 10.1002/mdc3.12920. eCollection 2020 Apr. Mov Disord Clin Pract. 2020. PMID: 32258235 Free PMC article. No abstract available.
Huntington's disease masquerading as spinocerebellar ataxia.
Rodríguez-Quiroga SA, Gonzalez-Morón D, Garretto N, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: gonzalez moron d. BMJ Case Rep. 2013 Jul 12;2013:bcr2012008380. doi: 10.1136/bcr-2012-008380. BMJ Case Rep. 2013. PMID: 23853009 Free PMC article.
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